Journal of Human Genetics - Table of Contents alert Volume 59 Issue 10

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TABLE OF CONTENTS Volume 59, Issue 10 (October 2014) In this issue Original Articles Short Communications Correspondence Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe   Advertisement Human Genome Variation is launched! Nature Publishing Group and the Japan Society of Human Genetics are delighted to announce that Human Genome Variation has published its first articles and has been fully launched on nature.com. PUBLISH, SHARE, UTILIZE human genome data with Human Genome Variation. Learn more and register for e-alerts at http://www.nature.com/hgv   Original Articles Top Nonparametric method for detecting imprinting effect using all members of general pedigrees with missing data Fangyuan Zhang and Shili Lin J Hum Genet 2014 59: 541-548; advance online publication, August 14, 2014; 10.1038/jhg.2014.67 Abstract | Full Text Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements Shinichi Nakashima, Akira Ohishi, Fumio Takada, Hideki Kawamura, Maki Igarashi, Maki Fukami and Tsutomu Ogata J Hum Genet 2014 59: 549-553; advance online publication, August 7, 2014; 10.1038/jhg.2014.70 Abstract | Full Text Telomerase expression in amyotrophic lateral sclerosis (ALS) patients Bruna De Felice, Anna Annunziata, Giuseppe Fiorentino, Francesco Manfellotto, Raffaella D'Alessandro, Rita Marino, Marco Borra and Elio Biffali J Hum Genet 2014 59: 555-561; advance online publication, August 21, 2014; 10.1038/jhg.2014.72 Abstract | Full Text Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia Yu Wang, Huiwen Zhang, Jun Ye, Lianshu Han and Xuefan Gu J Hum Genet 2014 59: 563-567; advance online publication, August 21, 2014; 10.1038/jhg.2014.73 Abstract | Full Text A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study Ying Wang, Kishin Koh, Michiaki Miwa, Nobuo Yamashiro, Kazumasa Shindo and Yoshihisa Takiyama J Hum Genet 2014 59: 569-573; advance online publication, August 21, 2014; 10.1038/jhg.2014.74 Abstract | Full Text GST Theta null genotype is associated with an increased risk for ulcerative colitis: a case–control study and meta-analysis of GST Mu and GST Theta polymorphisms in inflammatory bowel disease Mark M T J Broekman, Caro Bos, René H M te Morsche, Frank Hoentjen, Hennie M J Roelofs, Wilbert H M Peters, Geert J A Wanten and Dirk J de Jong J Hum Genet 2014 59: 575-580; advance online publication, September 4, 2014; 10.1038/jhg.2014.77 Abstract | Full Text Short Communications Top A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation Hirotomo Saitsu, Jun Tohyama, Tom Walsh, Mitsuhiro Kato, Yu Kobayashi, Ming Lee, Yoshinori Tsurusaki, Noriko Miyake, Yu-ichi Goto, Ichizo Nishino, Akira Ohtake, Mary-Claire King and Naomichi Matsumoto J Hum Genet 2014 59: 581-583; advance online publication, August 7, 2014; 10.1038/jhg.2014.71 Abstract | Full Text Heterozygosity for deletion of hypersensitive site 3 in the human locus control region has an unexpected minor effect on red cell phenotype Jorge M Nieto, Ana Villegas, Felix De La Fuente-Gonzalo, Fernando A González and Paloma Ropero J Hum Genet 2014 59: 585-587; advance online publication, September 4, 2014; 10.1038/jhg.2014.76 Abstract | Full Text Correspondence Top ‘Cortical cerebellar atrophy’ dwindles away in the era of next-generation sequencing OPEN Kunihiro Yoshida, Satoko Miyatake, Tomomi Kinoshita, Hiroshi Doi, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu and Naomichi Matsumoto J Hum Genet 2014 59: 589-590; advance online publication, September 11, 2014; 10.1038/jhg.2014.75 Full Text Advertisement Have you read these highly downloaded articles recently published by Journal of Human Genetics?  The case for the continuing use of the revised Cambridge Reference Sequence (rCRS) and the standardization of notation in human mitochondrial DNA studies  The promise of whole-exome sequencing in medical genetics  Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies  Browse more content!   Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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